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Series GSE228151 Query DataSets for GSE228151
Status Public on Oct 05, 2023
Title Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss
Organism Homo sapiens
Experiment type Methylation profiling by genome tiling array
Genome variation profiling by array
Summary Pregnancy loss is often caused by chromosomal abnormalities of the conceptus. The prevalence of these abnormalities and the allocation of (ab)normal cells in embryonic and placental lineages during intrauterine development remain elusive. We analyzed 1,745 spontaneous pregnancy losses and found that roughly half (50.4%) of the products of conception (POC) were karyotypically abnormal, with maternal and paternal age independently contributing to the increased genomic aberration rate in pregnancy loss. We applied genome haplarithmisis to a subset of 94 pregnancy losses with normal parental and POC karyotypes. Genotyping of parental DNA as well as POC extraembryonic mesoderm and chorionic villi DNA, representing embryonic and trophoblastic tissues, enabled characterization of the genomic landscape of both lineages. Of these pregnancy losses, 35.1% had chromosomal aberrations not previously detected by karyotyping, increasing the rate of aberrations of pregnancy losses to 67.8% by extrapolation. In contrast to viable pregnancies where mosaic chromosomal abnormalities are often restricted to chorionic villi, such as confined placental mosaicism, we found a higher degree of mosaic chromosomal imbalances in extraembryonic mesoderm rather than chorionic villi in pregnancy losses. Our results stress the importance of scrutinizing the full allelic architecture of genomic abnormalities in pregnancy loss to improve clinical management and basic research of this devastating condition.
 
Overall design We applied genome haplarithmisis to a subset of 94 pregnancy losses with normal parental and POC karyotypes. Genotyping of parental DNA as well as POC extraembryonic mesoderm and chorionic villi DNA, representing embryonic and trophoblastic tissues, enabled characterization of the genomic landscape of both lineages.
 
Citation(s) 37996709
Submission date Mar 24, 2023
Last update date Dec 22, 2023
Contact name Rick Essers
E-mail(s) rick.essers@mumc.nl
Organization name Maastricht University Medical Centre (MUMC+)
Department Clinical Genetics
Street address P. Debyelaan 25
City Maastricht
State/province Limburg
ZIP/Postal code 6229HX
Country Netherlands
 
Platforms (2)
GPL21145 Infinium MethylationEPIC
GPL28939 Illumina Infinium Global Screening Array-24 BeadChip (customizable)
Samples (463)
GSM7115132 Extraembryonic mesoderm fetal biopsy [PL2712_EM3700 methylation]
GSM7115133 Chorionic villi fetal biopsy [PL2712_CV3700 methylation]
GSM7115134 Chorionic villi fetal biopsy [PL2617_CV3627 methylation]
This SuperSeries is composed of the following SubSeries:
GSE228149 Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss
GSE228150 Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss
Relations
BioProject PRJNA948396

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE228151_RAW.tar 5.0 Gb (http)(custom) TAR (of IDAT)

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